CLINICAL UTILITY GENECARD UPDATE Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012

European Journal of Human Genetics (2013) 21, doi:10.1038/ejhg.2012.164; published online 15 August 2012Update to: European Journal of Human Genetics (2010) 18, 1069; doi:10.1038/ejhg.2009.232; published online 27 January 20101. DISEASE CHARACTERISTICS1.1 Name of the disease (synonyms)Lynch syndrome/HNPCC.1.2 OMIM# of the disease276300, 613244.1.3 Name of the analysed genes or DNA/chromosome segmentsMLH1, MSH2, MSH6, PMS2, and EPCAM.1.4 OMIM# of the gene(s)MLH1 (120436), MSH2 (609309), MSH6 (600678), PMS2 (600259),EPCAM (185535).1.5 Mutational spectrumPoint mutations, large deletions and duplications, large genomicinsertions and promoter methylation.1.6 Analytical methodsStepwise analyses:1. Clinical selection according to the Amsterdam II criteria andrevised Bethesda guidelines.